| Budget Amount *help |
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1986: ¥2,000,000 (Direct Cost: ¥2,000,000)
|
|---|
| Research Abstract |
Several congenital anomaly syndromes of unknown cause were studied genetically whether they are genetically determined. The results of the study are as follows: (1)Eight Arscog syndrome patients, 7 Beckwith-Wiedemann syndrome (BWS) patients, 3 de Lange syndrome patients, 12 Prader-Willi syndrome (PWS) patients, and one Kabuki make-up patients (KMS) were studied with high-resolution chromosome bandings. All PWS patients showed a deletion in 15q11-12 region, and one KMS patients have inv(Y). (2)Segregation study was performed on our 5 BWS families and on 19 such families from the literature. Results showed the segregation rate of 0.51 0.066, sex ratio of 1, absence of the family showing male-to-male transmission, and presense of 4 families where the disease was transmitted through 3 generations. We concluded that the disease is transmitted in an autosomal dominant mode of inheritance. (3)A further improved method for identifying heteromorphisms of human acrocentric chromosomes was developed, which is characterized by a combination of high-resolution banding and a dual Q-R banding. (4)High-resolution banding analysis was performed on 4 patients with infantile glycerol kinase deficiency, showing a deletion around the Xp21 region in all. Southern hybridization analyses were performed using several cloned DNAs within the Xp21 region as probes. The results indicate that DNA deletions were different in length with different patients, but the deleted segment common to the five patients was confined to a segment between the locus of pERT87-15 and that of C7. (5)Southern analyses were performed on 6 BWS patients with cloned DNAs p3-21 and #34 as probes. All patients have one copy of such sequences compared with 2 copies in normal controls, suggesting that analyses with these probes make a prenatal diagnosis of the diesease possible.
|
